Relier Pairs Med Genetic 3Version en ligne FOREIGN par Anthony Flish 1 Leber's Hereditary Optic Neuropathy, cause blindess, mitochondrial disease 2 p2+2pq+q2 and p+q=1 3 Duchenne Muscular Dystrophy lacks Dystrophin which interact with actin as well as dystroglycan-sarcoglycan. stablizes sarcolemma 4 X-linked Recessive Pedigree 5 Sex Reversal Syndrome 6 X-linked Dominant Pedigree 7 Y-linked 8 Autosomal Codominant Inheritance 9 Hemophilia A or B is X-Linked recessive Disorder. Which lacks? 10 X-linked Recessive 11 X-Linked Dominant inheritance 12 Autosomal Recessiv Inheritance 13 carrier frequency 14 Autosomal Dominant inheritance 15 Red-Green Color Blindess 2 alleles at locus produce 2 different phenotypes that appear in heterozygote (i.e. A,B,O blood group).. Emphysema (a1-antitrypsin) -Tend to skip generation -affected offspring born to unaffected parents. -equal frequency between both sex. Hardy Weinberg Equation loss of SRY gene, gonad dysgenesis. affect both sex. appear in every generation. (CAN CAUSE NEW AUTOSOMAL DOMINANT MUTATION) Mutated gene for NADH Dehydrogenase. 2pq lack light absorbing protein "Opsin" increase intracellular Ca2+, activation depend on protease. Kinase level in blood (20x). Clumsy. Becker Muscular Dystrophy is less severe. No Father to Son transmission . Fragile X syndrome FMR1 protein. (CGG)-Arginine. lacks clotting factor VIII or IX.